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RAB6D RAB6D, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 150786, updated on 5-Mar-2024

Summary

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Official Symbol
RAB6Dprovided by HGNC
Official Full Name
RAB6D, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:30272
See related
Ensembl:ENSG00000233087 AllianceGenome:HGNC:30272
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAB6CL; WTH3DI
Summary
Predicted to enable GTPase activity. Predicted to be involved in Golgi vesicle transport; intracellular protein transport; and retrograde transport, endosome to Golgi. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
all
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Genomic context

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See RAB6D in Genome Data Viewer
Location:
2q21.1
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (131360492..131364168, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (131795201..131798903, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (132118065..132121741, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ARHGAP42 pseudogene 1 Neighboring gene fatty acyl-CoA reductase 2 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:132104413-132104914 Neighboring gene SSBP3 pseudogene 2 Neighboring gene MT-CYB pseudogene 10 Neighboring gene MT-ND6 pseudogene 10

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16) domain-containing proteins based on their Rab-binding activity. Itoh T, et al. Genes Cells, 2006 Sep. PMID 16923123
  2. Upregulation of RIN3 induces endosomal dysfunction in Alzheimer's disease. Shen R, et al. Transl Neurodegener, 2020 Jun 18. PMID 32552912, Free PMC Article
  3. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
  4. Mapping the proximity interaction network of the Rho-family GTPases reveals signalling pathways and regulatory mechanisms. Bagci H, et al. Nat Cell Biol, 2020 Jan. PMID 31871319
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in intra-Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ras-related protein Rab-6D
Names
RAB6C-like
rab6-like protein WTH3DI

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001077637.3 → NP_001071105.1  ras-related protein Rab-6D

    See identical proteins and their annotated locations for NP_001071105.1

    Status: VALIDATED

    Source sequence(s)
    AC073869
    Consensus CDS
    CCDS82514.1
    UniProtKB/Swiss-Prot
    Q53S08
    UniProtKB/TrEMBL
    Q53ET8, Q6FGX3
    Related
    ENSP00000490038.1, ENST00000623617.3
    Conserved Domains (1) summary
    cd01861
    Location:14 → 174
    Rab6; Rab GTPase family 6 (Rab6)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    131360492..131364168 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    131795201..131798903 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_001554.1: Suppressed sequence

    Description
    NG_001554.1: This RefSeq was suppressed because there is evidence to suggest the locus is transcribed and encodes a functional protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53S08.1 GenPept UniProtKB/Swiss-Prot:Q53S08

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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